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Gene: SFRP4 & Disease: PYL, 10 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
989454	SFRP4	c.161C>A	p.Ala54Asp (p.A54D)	NM_003014.4 M	SNV	LP	1 +	1
989455	SFRP4	c.373T>A	p.Cys125Ser (p.C125S)	NM_003014.4 M	SNV	LP	1 +	1
242995	SFRP4	c.499dup	p.Asp167fs (p.D167fs)	NM_003014.4 M	Dup	P	1 +	1
242996	SFRP4	c.694C>T	p.Arg232Ter (p.R232X)	NM_003014.4 M	SNV	P	1 +	1
242997	SFRP4	c.481_487del	p.Val161fs (p.V161fs)	NM_003014.4 M	Del	P	1 +	1
242997	SFRP4	c.481_487delGTACAGG	--	NM_003014.4 M	Del	P	1 +	1
1332946	SFRP4	c.1019G>A	p.Arg340Lys (p.R340K)	NM_003014.4 M	SNV	B	1 +	0
1332947	SFRP4	c.786C>T	p.Arg262= (p.R262=)	NM_003014.4 M	SNV	B	1 +	0
1332948	SFRP4	c.567G>A	p.Thr189= (p.T189=)	NM_003014.4 M	SNV	B	1 +	0
1287094	SFRP4	c.958C>A	p.Pro320Thr (p.P320T)	NM_003014.4 M	SNV	B	1 +	0

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